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Journal Abstract Search

112 related items for PubMed ID: 9360545

  • 1. A single amino acid substitution in the putative redox partner-binding site of P450c17 as cause of isolated 17,20-lyase deficiency.
    Biason-Lauber A, Leiberman E, Zachmann M.
    J Clin Endocrinol Metab; 1997 Nov; 82(11):3807-12. PubMed ID: 9360545
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  • 2. Novel mutation of the CYP17 gene in two unrelated patients with combined 17alpha-hydroxylase/17,20-lyase deficiency: demonstration of absent enzyme activity by expressing the mutant CYP17 gene and by three-dimensional modeling.
    Patocs A, Liko I, Varga I, Gergics P, Boros A, Futo L, Kun I, Bertalan R, Toth S, Pazmany T, Toth M, Szücs N, Horanyi J, Glaz E, Racz K.
    J Steroid Biochem Mol Biol; 2005 Nov; 97(3):257-65. PubMed ID: 16176874
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  • 3. Compound heterozygous mutations (Arg 239----stop, Pro 342----Thr) in the CYP17 (P45017 alpha) gene lead to ambiguous external genitalia in a male patient with partial combined 17 alpha-hydroxylase/17,20-lyase deficiency.
    Ahlgren R, Yanase T, Simpson ER, Winter JS, Waterman MR.
    J Clin Endocrinol Metab; 1992 Mar; 74(3):667-72. PubMed ID: 1740503
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  • 6. Towards a unifying mechanism for CYP17 mutations that cause isolated 17,20-lyase deficiency.
    Auchus RJ, Gupta MK.
    Endocr Res; 2002 Nov; 28(4):443-7. PubMed ID: 12530647
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  • 7. Combined 17alpha-Hydroxylase/17,20-lyase deficiency caused by Phe93Cys mutation in the CYP17 gene.
    Di Cerbo A, Biason-Lauber A, Savino M, Piemontese MR, Di Giorgio A, Perona M, Savoia A.
    J Clin Endocrinol Metab; 2002 Feb; 87(2):898-905. PubMed ID: 11836339
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  • 8. Novel CYP17A1 mutation in a Japanese patient with combined 17alpha-hydroxylase/17,20-lyase deficiency.
    Katsumata N, Ogawa E, Fujiwara I, Fujikura K.
    Metabolism; 2010 Feb; 59(2):275-8. PubMed ID: 19793597
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  • 9. Differential inhibition of 17alpha-hydroxylase and 17,20-lyase activities by three novel missense CYP17 mutations identified in patients with P450c17 deficiency.
    Van Den Akker EL, Koper JW, Boehmer AL, Themmen AP, Verhoef-Post M, Timmerman MA, Otten BJ, Drop SL, De Jong FH.
    J Clin Endocrinol Metab; 2002 Dec; 87(12):5714-21. PubMed ID: 12466376
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  • 10. Molecular basis of 17α-hydroxylase/17,20-lyase deficiency.
    Yanase T, Imai T, Simpson ER, Waterman MR.
    J Steroid Biochem Mol Biol; 1992 Dec; 43(8):973-9. PubMed ID: 22217842
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  • 11. Deletion within the CYP17 gene together with insertion of foreign DNA is the cause of combined complete 17 alpha-hydroxylase/17,20-lyase deficiency in an Italian patient.
    Biason A, Mantero F, Scaroni C, Simpson ER, Waterman MR.
    Mol Endocrinol; 1991 Dec; 5(12):2037-45. PubMed ID: 1665206
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  • 12. Pitfalls in characterizing P450c17 mutations associated with isolated 17,20-lyase deficiency.
    Gupta MK, Geller DH, Auchus RJ.
    J Clin Endocrinol Metab; 2001 Sep; 86(9):4416-23. PubMed ID: 11549685
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  • 14. New compound heterozygous mutation in the CYP17 gene in a 46,XY girl with 17 alpha-hydroxylase/17,20-lyase deficiency.
    Katsumata N, Satoh M, Mikami A, Mikami S, Nagashima-Miyokawa A, Sato N, Yokoya S, Tanaka T.
    Horm Res; 2001 Sep; 55(3):141-6. PubMed ID: 11549876
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  • 15. A compound heterozygous mutation in the CYP17 (17alpha-hydroxylase/17,20-lyase) gene in a Chinese subject with congenital adrenal hyperplasia.
    Won GS, Chiu CY, Tso YC, Jenq SF, Cheng PS, Jap TS.
    Metabolism; 2007 Apr; 56(4):504-7. PubMed ID: 17379008
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  • 16. Mutation of proline 409 to arginine in the meander region of cytochrome p450c17 causes severe 17 alpha-hydroxylase deficiency.
    Lam CW, Arlt W, Chan CK, Honour JW, Lin CJ, Tong SF, Choy KW, Miller WL.
    Mol Genet Metab; 2001 Mar; 72(3):254-9. PubMed ID: 11243732
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  • 17. Molecular basis of apparent isolated 17,20-lyase deficiency: compound heterozygous mutations in the C-terminal region (Arg(496)----Cys, Gln(461)----Stop) actually cause combined 17 alpha-hydroxylase/17,20-lyase deficiency.
    Yanase T, Waterman MR, Zachmann M, Winter JS, Simpson ER, Kagimoto M.
    Biochim Biophys Acta; 1992 Aug 25; 1139(4):275-9. PubMed ID: 1515452
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  • 19. [New compound heterozygous mutation causes partial combined 17 alpha-hydroxylase/17,20-lyase deficiency].
    Tao H, Zhang B, Lu ZL, Pei Y, Mi SH.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Feb 25; 24(1):19-22. PubMed ID: 17285537
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